Mutagenetix > Incidental Mutations

Incidental Mutation 'R3874:Uroc1'

276716

Institutional Source

Beutler Lab

Gene Symbol

Uroc1

Ensembl Gene

ENSMUSG00000034456

Gene Name

urocanase domain containing 1

Synonyms

MMRRC Submission

040792-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3874 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90333284-90364551 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 90361512 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 652 (K652*)

Ref Sequence

ENSEMBL: ENSMUSP00000127114 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046128] [ENSMUST00000164761]

Predicted Effect

probably null
Transcript: ENSMUST00000046128
AA Change: K618*

SMART Domains

Protein: ENSMUSP00000040424
Gene: ENSMUSG00000034456
AA Change: K618*

Domain	Start	End	E-Value	Type
Pfam:Urocanase	84	662	2.7e-231	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000164761
AA Change: K652*

SMART Domains

Protein: ENSMUSP00000127114
Gene: ENSMUSG00000034456
AA Change: K652*

Domain	Start	End	E-Value	Type
Pfam:Urocanase	85	316	1.4e-102	PFAM
Pfam:Urocanase	319	683	8.7e-144	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme involved in histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. The gene product is known to protect the skin from ultra violet rays and is contained in human sweat. Deficiency of this gene product in the liver is an apparent cause of mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130213A22Rik	C	A	11: 69,121,475	G26*	probably null	Het
Abca5	T	A	11: 110,310,233	Y447F	probably damaging	Het
Acox2	A	G	14: 8,248,061	I407T	probably benign	Het
Adam8	T	C	7: 139,987,607	N408D	probably damaging	Het
Adgre1	A	T	17: 57,401,925	T39S	probably benign	Het
Akap12	G	A	10: 4,357,590	V1467I	probably benign	Het
Arid1b	T	A	17: 5,336,515		probably null	Het
Atp2c2	A	G	8: 119,735,296	I303V	possibly damaging	Het
Bpifc	C	T	10: 85,991,254	V144I	probably benign	Het
C530008M17Rik	A	G	5: 76,840,892	D30G	probably damaging	Het
Camk4	A	G	18: 33,158,854	E189G	possibly damaging	Het
Casz1	A	G	4: 148,939,589		probably benign	Het
Ccdc134	T	C	15: 82,131,442	V41A	possibly damaging	Het
Chrd	A	T	16: 20,738,910	T753S	probably damaging	Het
Cyb561a3	T	C	19: 10,585,371	V125A	probably benign	Het
D630039A03Rik	T	A	4: 57,910,606	T69S	probably benign	Het
Dchs1	A	G	7: 105,761,635	F1687S	probably damaging	Het
Dlgap4	T	C	2: 156,749,347	S818P	probably benign	Het
Dnah2	A	G	11: 69,429,348	I3965T	probably damaging	Het
Dnaic2	G	T	11: 114,732,955	G15W	probably damaging	Het
Dsg1c	A	G	18: 20,277,052	I526V	probably benign	Het
Far2	G	A	6: 148,150,591	E123K	probably benign	Het
Gli1	A	T	10: 127,330,219	V1055E	probably damaging	Het
Hand2	G	T	8: 57,321,976	A24S	probably benign	Het
Helb	T	C	10: 120,106,037	I249V	probably benign	Het
Hspa4l	G	A	3: 40,772,642	V492M	probably damaging	Het
Hspg2	T	C	4: 137,539,349	I1916T	probably damaging	Het
Igfals	G	A	17: 24,881,605	V557I	possibly damaging	Het
Itpa	T	G	2: 130,681,010	S176A	probably damaging	Het
Kcnu1	T	A	8: 25,885,317	L353H	probably damaging	Het
Klhl1	A	G	14: 96,518,179	F47L	probably benign	Het
Klhl13	T	C	X: 23,285,176	D21G	probably benign	Het
Krt26	T	C	11: 99,334,744	K304E	probably damaging	Het
Krt9	C	T	11: 100,190,849	V285I	probably damaging	Het
Mansc1	T	C	6: 134,610,183	R344G	possibly damaging	Het
Mier2	G	T	10: 79,541,797	P439T	possibly damaging	Het
Mppe1	T	A	18: 67,225,886		probably null	Het
Nedd4l	G	A	18: 65,167,535	A243T	probably benign	Het
Notch4	T	A	17: 34,578,069	C934*	probably null	Het
Nsmce3	C	T	7: 64,872,168	D251N	probably damaging	Het
Olfr101	T	A	17: 37,299,979	T148S	probably benign	Het
Olfr1156	T	A	2: 87,949,530	R234S	probably damaging	Het
Olfr1310	T	C	2: 112,008,323	T288A	possibly damaging	Het
Olfr139	A	G	11: 74,044,699	C192R	probably damaging	Het
Olfr517	C	T	7: 108,869,128	V9M	probably damaging	Het
Olfr937	A	G	9: 39,060,174	I164T	probably benign	Het
Pdzd7	T	C	19: 45,045,628	T6A	probably benign	Het
Picalm	T	A	7: 90,189,219	F493Y	probably damaging	Het
Prl7d1	A	G	13: 27,716,668	M1T	probably null	Het
Prl8a1	T	C	13: 27,575,458	K199E	possibly damaging	Het
Rims1	C	T	1: 22,428,489	R764H	probably damaging	Het
Rnf17	G	T	14: 56,475,413	R779L	possibly damaging	Het
Rufy2	T	C	10: 62,998,137	L294P	probably damaging	Het
Sgsh	A	G	11: 119,350,947	L111P	probably damaging	Het
Slc22a30	G	T	19: 8,336,849	T491K	probably benign	Het
Slc35b3	T	C	13: 38,943,068	N20D	possibly damaging	Het
Slc5a4a	T	C	10: 76,181,655	F429L	probably benign	Het
Sulf1	T	C	1: 12,817,412	I270T	probably damaging	Het
Tmem51	T	C	4: 142,031,748	T230A	probably damaging	Het
Tnc	T	A	4: 64,008,710	I860F	probably damaging	Het
Trh	A	T	6: 92,243,698	V61E	possibly damaging	Het
Ttn	T	G	2: 76,754,099	T22222P	probably damaging	Het
Usp34	C	T	11: 23,489,033	P3532S	possibly damaging	Het
Vmn2r120	A	T	17: 57,524,954	F278L	probably benign	Het
Vmn2r7	A	G	3: 64,719,611	F86L	possibly damaging	Het
Vmn2r87	A	T	10: 130,479,987	I70K	possibly damaging	Het
Vps13a	C	T	19: 16,744,953	A332T	probably benign	Het
Zfp568	T	A	7: 30,023,396	C589S	probably damaging	Het

Other mutations in Uroc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00963:Uroc1	APN	6	90338828	missense	probably benign
IGL01015:Uroc1	APN	6	90358901	splice site	probably benign
IGL01386:Uroc1	APN	6	90346765	missense	probably damaging	0.99
IGL01449:Uroc1	APN	6	90338653	missense	probably damaging	1.00
IGL01514:Uroc1	APN	6	90363100	splice site	probably benign
IGL02060:Uroc1	APN	6	90338255	missense	probably benign	0.03
IGL02247:Uroc1	APN	6	90347928	missense	probably benign	0.00
IGL02256:Uroc1	APN	6	90346687	missense	possibly damaging	0.83
IGL02886:Uroc1	APN	6	90346829	splice site	probably benign
IGL03087:Uroc1	APN	6	90363103	splice site	probably benign
PIT4651001:Uroc1	UTSW	6	90363113	nonsense	probably null
R0034:Uroc1	UTSW	6	90345310	missense	probably damaging	1.00
R0245:Uroc1	UTSW	6	90344197	missense	probably damaging	1.00
R0402:Uroc1	UTSW	6	90347302	missense	probably damaging	1.00
R0570:Uroc1	UTSW	6	90338564	missense	possibly damaging	0.90
R0729:Uroc1	UTSW	6	90336955	missense	probably damaging	1.00
R1471:Uroc1	UTSW	6	90344171	missense	probably damaging	1.00
R1782:Uroc1	UTSW	6	90336919	missense	probably damaging	1.00
R1866:Uroc1	UTSW	6	90361524	missense	probably benign	0.03
R1983:Uroc1	UTSW	6	90345369	missense	probably damaging	1.00
R2086:Uroc1	UTSW	6	90344114	missense	probably damaging	1.00
R2321:Uroc1	UTSW	6	90347247	missense	possibly damaging	0.94
R3720:Uroc1	UTSW	6	90346355	missense	probably damaging	1.00
R4628:Uroc1	UTSW	6	90355328	missense	probably damaging	0.99
R4810:Uroc1	UTSW	6	90363153	missense	probably damaging	1.00
R4820:Uroc1	UTSW	6	90357618	critical splice donor site	probably null
R4838:Uroc1	UTSW	6	90349192	missense	possibly damaging	0.90
R4880:Uroc1	UTSW	6	90357537	missense	probably damaging	1.00
R4964:Uroc1	UTSW	6	90345394	missense	probably damaging	0.98
R4966:Uroc1	UTSW	6	90345394	missense	probably damaging	0.98
R5468:Uroc1	UTSW	6	90338604	missense	probably benign	0.45
R5592:Uroc1	UTSW	6	90355344	missense	probably damaging	0.99
R5698:Uroc1	UTSW	6	90347320	missense	probably damaging	1.00
R5789:Uroc1	UTSW	6	90344197	missense	probably damaging	1.00
R5853:Uroc1	UTSW	6	90346756	missense	probably damaging	0.99
R6063:Uroc1	UTSW	6	90347928	missense	probably benign	0.37
R6883:Uroc1	UTSW	6	90338592	nonsense	probably null
R7374:Uroc1	UTSW	6	90338833	missense	probably damaging	1.00
R7394:Uroc1	UTSW	6	90345333	missense	probably damaging	1.00
R7427:Uroc1	UTSW	6	90346362	missense	possibly damaging	0.56
R8376:Uroc1	UTSW	6	90337715	missense	probably damaging	0.99
X0021:Uroc1	UTSW	6	90344150	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- TGTTCTGCTGGTCACATGGC -3'
(R):5'- ATACTGCAGGGTGAGACCAG -3'

Sequencing Primer
(F):5'- CACATGGCTTTATGAGGTAGAGGTC -3'
(R):5'- GGTGGTTCACAACAGTATCTCCAG -3'

Posted On

2015-04-06